List of variants in gene DNA2 reported as uncertain significance for Mitochondrial DNA deletion syndrome with progressive myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His)	rs2133402393	0.00001
NM_001080449.3(DNA2):c.1429A>T (p.Ser477Cys)	rs951836392	0.00001
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)	rs1427765276	0.00001
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile)	rs760968251	0.00001
NM_001080449.3(DNA2):c.1450del (p.Arg484fs)	rs2133386949
NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)	rs2493927371
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly)	rs2051684928
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val)	rs2133361857
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)	rs575286619

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